ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.344G>A (p.Arg115His)

gnomAD frequency: 0.00006  dbSNP: rs200754925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924123 SCV002199443 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136318 SCV003823335 uncertain significance Developmental and epileptic encephalopathy, 41 2019-11-27 criteria provided, single submitter clinical testing

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